Georgia's story gives hope to many families after DNA sequencing breakthrough
Alok Jha
Former Science Correspondent
It’s hard not to be moved by the story of four-year-old Georgia Walburn-Green and her family.
Born seemingly healthy, her parents Amanda and Matt told ITV News they only had 20 minutes of “worry-free cuddling” with their brand new baby before doctors drew the curtains around the bed to tell them something was not quite right - they could see that Georgia’s head was bigger than normal.
Since then, Georgia has had a range of problems with her eyes, kidneys and brain.
Her physical and mental development has been delayed. Despite years of tests, though, doctors couldn’t pinpoint what was wrong with this otherwise lively, smiling girl.
That changed a few weeks ago, when Amanda and Matt got a phone call from scientists at Great Ormond Street Hospital.
Georgia’s condition, they were told, was due to a mutation in a gene called Kdn5b.
Georgia is one of the first children to receive a diagnosis from a pioneering research study in the NHS - the 100,000 Genomes Project - which I wrote about at its launch just over a year ago.
It will sequence the full genetic sequences of several groups of people: cancer patients and also those with one of the thousands of rare, mystery illnesses that have so far defied explanation.
By comparing their genetic sequences to those of healthy people and, in the case of rare illnesses, their relatives, scientists and doctors hope to tease out the DNA factors that could be lurking behind the problems.
Life sciences minister George Freeman, one of those who helped conceive and launch the project, told me that he wanted to see genome sequencing become embedded within the NHS.
Within 15 years, he hoped the NHS would become a “genomic medicine service” where gene sequencing was a medical tool as mainstream as X-rays or MRI scanners.
Over time, the project’s collection of genetic data, combined with the long-term health records of the patients in the NHS, promises to become a unique resource for scientists looking for better understanding of rare illnesses and leads on how to treat them.
The genetic causes of a disease could point to targets for new drugs, for example, or it could show doctors that existing drugs or interventions might be of help in new situations.
Most of those big discoveries are many years, perhaps decades away. For now, the most that patients can expect from their genome sequence is their first proper diagnosis - and we shouldn’t underestimate how important that simple information can be by itself.
Repeated tests and countless trips to hospital to find out what is happening to a person can be invasive and uncomfortable - a genetic test can simplify and fast-track those investigations.
Even if there is no immediate treatment, a genetic diagnosis can give families closure after years of uncertainty and worrying. And it can set them on a more positive path - Amanda and Matt, for example, can finally start to come to terms with Georgia’s condition.
And they can look for other people with the same genetic mutation, to share experiences with their families and get a glimpse at what might be in store for Georgia’s own future.